ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1305C>A (p.Gly435=)

dbSNP: rs201894731
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180014 SCV000232349 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV001080819 SCV001037775 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000180014 SCV001783480 likely benign not provided 2020-07-09 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.